Comprehensive Management of Dravet Syndrome - Episode 2
The importance of early diagnosis of Dravet syndrome as well as seizure triggers and comorbidities are discussed by key opinion leaders in the field.
Joseph Sullivan, MD: When should we start suspecting this diagnosis? At what point? You see those seizures, but is it the second seizure? Is it the third seizure? When do you think in a perfect world, now that genetic testing is a little easier to get, are you reaching for the genetic testing to “confirm” this diagnosis?
Elaine C. Wirrell, MD: Genetic testing is a lot easier to get, right? We’re now able to do that essentially free of charge. We don’t necessarily have to get insurance approval, so we have to ask ourselves, why shouldn’t we be doing it earlier? We should be—certainly in a very young child who has a prolonged febrile seizure, and particularly if it’s a prolonged hemiconvulsive febrile seizure, those are kids I would even think about doing [genetic testing] from the get-go with their first seizure. Certainly if there are recurrent prolonged febrile seizures or recurrent hemiconvulsive febrile seizures, and particularly if they’ve switched sides. First time it’s on the right side, then they come back and they’ve got a left-sided seizure, or children where you have recurrent prolonged seizures. There’s not a lesion that you can blame it on. Those are kids we really want to be thinking about testing early because it does make a difference. The families then understand the battle they’re up against, and it also helps us guide therapies. We can choose the best therapies, we can avoid therapies that are potentially harmful, and we can also avoid triggers that we know can bring on seizures.
Joseph Sullivan, MD: Absolutely. I recall there was a publication a while ago that tried to look at some of these factors to come up with a predictive score [to determine] the likelihood that someone is going to have a pathogenic SCN1A variant. Those included onset before—first seizure before 7 months of age, more than 5 seizures before 1 year of age. Any hemiconvulsion, any seizure that was prolonged. You can see in this classic presentation, you start checking all those boxes, and the positive predictive value of having a pathogenic SCN1A variant was greater than 95%. That’s valuable information for clinicians to have as they’re approaching these patients. Now that we’re talking about these patients who are coming in with their first seizure, it’s important to understand the different stages of this syndrome. Maybe you’re seeing a patient for the first time when they’re 7 years old and they still don’t have a diagnosis. Understanding which seizure types can occur, and when they tend to emerge, also should send some little flags. What about triggers? We talked about fever as being a big trigger. We know that other triggers are pretty common in these patients. Do you want to enlighten us a little about some of those?
Elaine C. Wirrell, MD: It’s any type of infection. And when we think about fever, often very mild fevers can trigger. In kids, vaccines can also be a trigger. That’s typically the vaccine inducing the fever, and then the fever triggers the seizure. Having said that, we really want our Dravet kids to get vaccinated, so we need to be smart in how we do that. Other things—sometimes a lot of excitement or physical activity, so if kids go to birthday parties or there are family reunions or weddings or something like that, seizures can happen. Sometimes patterns or photic stimulation can trigger. Also, ambient temperatures that are warm, so putting the kids in a warm bath or being in a warm environment can be triggers. Those are important for families to understand and be able to do what they can to reduce those triggers.
Joseph Sullivan, MD: Yes. I was going to say, it’s always heartbreaking when you hear about the excitement and someone has a seizure at their birthday party. It doesn’t mean we don’t want our patients to engage in all these exciting activities and be outdoors. I practice in California, and there are many climates in California, but some are 110 degrees in the summer. You need to go into it with that expectation that if they’re going to be out on a hot day, things like cooling vests and staying well hydrated are just important pieces to know about. That’s why, in my opinion, it’s so important to have this diagnosis as early as possible. Because we can start to work together with families and caregivers in terms of what’s potentially on the horizon. Hopefully you agree. Every child is different, but if we look at a cohort of 100 patients with Dravet syndrome, there are definitely going to be some common threads and themes that they follow, and being able to discuss those—while sometimes difficult—is important. We hear from patients that they would rather hear it from you or me as opposed to stumbling upon it.
Elaine C. Wirrell, MD: Online.
Joseph Sullivan, MD: On the internet, yes, exactly.
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Transcript Edited for Clarity